NM_004004.6(GJB2):c.583A>G (p.Met195Val) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:: Likely pathogenic (3 submissions)
Last evaluated:: Jun 2, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000505510.3

Allele description [Variation Report for NM_004004.6(GJB2):c.583A>G (p.Met195Val)]

NM_004004.6(GJB2):c.583A>G (p.Met195Val)

Gene:

GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_004004.6(GJB2):c.583A>G (p.Met195Val)

HGVS:

NC_000013.11:g.20188999T>C
NG_008358.1:g.8977A>G
NM_004004.6:c.583A>GMANE SELECT
NP_003995.2:p.Met195Val
LRG_1350t1:c.583A>G
LRG_1350:g.8977A>G
LRG_1350p1:p.Met195Val
NC_000013.10:g.20763138T>C
NC_000013.10:g.20763138T>C
NM_004004.5:c.583A>G
NM_004004.6(GJB2):c.583A>GMANE SELECT

Protein change:

M195V

Links:

dbSNP: rs532203068

NCBI 1000 Genomes Browser:

rs532203068

Molecular consequence:

NM_004004.6:c.583A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A)
Synonyms:: Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009076; MedGen: C2673759; Orphanet: 90636; OMIM: 220290

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MicroRNA-135b overexpression effect on prostate cancer cell line: time course
MicroRNA-135b overexpression effect on prostate cancer cell line: time course
Accession: GDS6100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000599761	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Likely pathogenic (May 9, 2017)	germline	clinical testing	Citation Link,
SCV000800789	Counsyl	no assertion criteria provided	Likely pathogenic (Oct 6, 2017)	unknown	clinical testing	PubMed (9) [See all records that cite these PMIDs] 19125024, 26749107, 21366436, 25788563, 24013081, 19366456, 23555729, 20497192, 24507663
SCV003935279	Integrating Genomics into Medicine, Frazer Institute, University Of Queensland	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 2, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000599761

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

criteria provided, single submitter

(DGD Variant Analysis Guidelines)

Likely pathogenic
(May 9, 2017)

germline

clinical testing

Citation Link,

SCV000800789

Counsyl

no assertion criteria provided

Likely pathogenic
(Oct 6, 2017)

unknown

clinical testing

PubMed (9)
[See all records that cite these PMIDs]

SCV003935279

Integrating Genomics into Medicine, Frazer Institute, University Of Queensland

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 2, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.

Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC.

Ear Hear. 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad.

PubMed [citation]

PMID:: 19125024

The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.

Kim HR, Oh SK, Lee ES, Choi SY, Roh SE, Kim SJ, Tsukihara T, Lee KY, Jeon CJ, Kim UK.

Hum Genet. 2016 Mar;135(3):287-98. doi: 10.1007/s00439-015-1625-7. Epub 2016 Jan 9.

PubMed [citation]

PMID:: 26749107

See all PubMed Citations (10)

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000599761.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Counsyl, SCV000800789.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Integrating Genomics into Medicine, Frazer Institute, University Of Queensland, SCV003935279.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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